Related references
Note: Only part of the references are listed.Heterozygous OPA1 mutations in Behr syndrome
Cecilia Marelli et al.
BRAIN (2011)
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations
Christian P. Schaaf et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Multi-system neurological disease is common in patients with OPA1 mutations
P. Yu-Wai-Man et al.
BRAIN (2010)
Molecular Screening of 980 Cases of Suspected Hereditary Optic Neuropathy with a Report on 77 Novel OPA1 Mutations
Marc Ferre et al.
HUMAN MUTATION (2009)
Hereditary optic neuropathies share a common mitochondrial coupling defect
Arnaud Chevrollier et al.
ANNALS OF NEUROLOGY (2008)
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
Patrizia Amati-Bonneau et al.
BRAIN (2008)
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons
Simone Schimpf et al.
HUMAN MUTATION (2008)
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
P Amati-Bonneau et al.
ANNALS OF NEUROLOGY (2005)
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
UEA Pesch et al.
HUMAN MOLECULAR GENETICS (2001)
Share Paper
